Mutagenetix > Incidental Mutation

Incidental Mutation 'R8402:Adcy7'

652237

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

067878-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88999031-89056590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89035363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

Ref Sequence

ENSEMBL: ENSMUSP00000096122 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098521] [ENSMUST00000168545] [ENSMUST00000169037] [ENSMUST00000171456]

AlphaFold

P51829

Predicted Effect

probably benign
Transcript: ENSMUST00000098521
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: V89A

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168545
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: V89A

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169037
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: V89A

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171456
AA Change: V89A

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: V89A

Domain	Start	End	E-Value	Type
low complexity region	91	104	N/A	INTRINSIC
low complexity region	126	142	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	1.2e-35	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210688

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality. Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,263,376 (GRCm39)	K579N	probably damaging	Het
Anapc1	G	A	2: 128,472,148 (GRCm39)	S1458L	probably benign	Het
AW551984	T	C	9: 39,508,949 (GRCm39)	Y325C	probably damaging	Het
Btnl4	T	C	17: 34,688,467 (GRCm39)	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,413,879 (GRCm39)	S806T	probably damaging	Het
Clec2m	T	A	6: 129,300,007 (GRCm39)	D157V	possibly damaging	Het
Ddit4l	A	G	3: 137,331,888 (GRCm39)	T85A	probably damaging	Het
Dmxl1	G	A	18: 50,011,393 (GRCm39)	W1183*	probably null	Het
Dmxl1	G	T	18: 50,011,409 (GRCm39)	V1189L	probably benign	Het
Dmxl1	G	C	18: 50,011,394 (GRCm39)	D1184H	probably benign	Het
Evpl	T	C	11: 116,116,197 (GRCm39)	D820G	probably benign	Het
Fam76b	T	C	9: 13,750,972 (GRCm39)	S289P	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,378,131 (GRCm39)	W116R	probably damaging	Het
Galnt7	G	A	8: 57,995,953 (GRCm39)	A355V	probably damaging	Het
Klk1b5	T	G	7: 43,867,962 (GRCm39)	F45V	probably benign	Het
Nav2	T	C	7: 49,103,185 (GRCm39)	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,636,750 (GRCm39)	N517S	probably damaging	Het
Or10ak16	A	G	4: 118,750,716 (GRCm39)	I145M	probably benign	Het
Or10d5	T	A	9: 39,861,713 (GRCm39)	Y118F	probably benign	Het
P2rx1	T	C	11: 72,904,715 (GRCm39)	F368L	probably damaging	Het
Palld	A	T	8: 62,164,440 (GRCm39)	V417E	probably damaging	Het
Robo1	C	A	16: 72,821,385 (GRCm39)	A1375E	probably benign	Het
Rps24	G	T	14: 24,540,829 (GRCm39)		probably benign	Het
Serpind1	A	G	16: 17,154,949 (GRCm39)	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,073,037 (GRCm39)	N628K	probably benign	Het
Tada3	A	T	6: 113,351,774 (GRCm39)	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,177,731 (GRCm39)	L508Q	probably damaging	Het
Thbs1	T	C	2: 117,946,359 (GRCm39)	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,424,718 (GRCm39)		probably benign	Het
Vmn2r3	A	G	3: 64,178,617 (GRCm39)		probably benign	Het
Vwa3b	A	G	1: 37,204,879 (GRCm39)	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,402,127 (GRCm39)	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,740,696 (GRCm39)	P523L	probably damaging	Het

Other mutations in Adcy7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Adcy7	APN	8	89,045,418 (GRCm39)	splice site	probably benign
IGL01434:Adcy7	APN	8	89,051,472 (GRCm39)	missense	probably damaging	1.00
IGL01784:Adcy7	APN	8	89,040,751 (GRCm39)	missense	probably damaging	1.00
IGL02506:Adcy7	APN	8	89,044,571 (GRCm39)	missense	probably damaging	1.00
IGL03184:Adcy7	APN	8	89,035,271 (GRCm39)	missense	probably benign	0.00
IGL03406:Adcy7	APN	8	89,044,947 (GRCm39)	nonsense	probably null
Churchill	UTSW	8	89,042,387 (GRCm39)	missense	probably damaging	1.00
democracy	UTSW	8	89,042,384 (GRCm39)	missense	probably damaging	1.00
Dictatorship	UTSW	8	89,037,736 (GRCm39)	missense	possibly damaging	0.80
periphery	UTSW	8	89,044,565 (GRCm39)	missense	probably benign	0.01
republic	UTSW	8	89,040,765 (GRCm39)	missense	probably damaging	1.00
tyranny	UTSW	8	89,038,856 (GRCm39)	missense	possibly damaging	0.76
PIT4283001:Adcy7	UTSW	8	89,042,120 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Adcy7	UTSW	8	89,050,264 (GRCm39)	missense	probably benign	0.07
R0265:Adcy7	UTSW	8	89,051,391 (GRCm39)	missense	probably damaging	0.96
R0963:Adcy7	UTSW	8	89,038,893 (GRCm39)	missense	probably damaging	1.00
R0990:Adcy7	UTSW	8	89,052,080 (GRCm39)	missense	possibly damaging	0.57
R1055:Adcy7	UTSW	8	89,044,685 (GRCm39)	splice site	probably benign
R1494:Adcy7	UTSW	8	89,046,835 (GRCm39)	missense	probably benign	0.00
R1764:Adcy7	UTSW	8	89,035,468 (GRCm39)	missense	probably benign	0.00
R2062:Adcy7	UTSW	8	89,038,902 (GRCm39)	missense	probably damaging	1.00
R2090:Adcy7	UTSW	8	89,042,485 (GRCm39)	missense	probably damaging	0.98
R2201:Adcy7	UTSW	8	89,044,606 (GRCm39)	missense	probably damaging	1.00
R2413:Adcy7	UTSW	8	89,036,446 (GRCm39)	missense	probably benign	0.20
R2849:Adcy7	UTSW	8	89,054,021 (GRCm39)	missense	probably benign	0.38
R4020:Adcy7	UTSW	8	89,035,362 (GRCm39)	missense	probably benign	0.00
R4086:Adcy7	UTSW	8	89,042,414 (GRCm39)	missense	probably benign	0.01
R4679:Adcy7	UTSW	8	89,044,565 (GRCm39)	missense	probably benign	0.01
R5069:Adcy7	UTSW	8	89,054,325 (GRCm39)	missense	probably damaging	1.00
R5253:Adcy7	UTSW	8	89,040,742 (GRCm39)	missense	probably damaging	1.00
R5286:Adcy7	UTSW	8	89,051,487 (GRCm39)	missense	probably damaging	1.00
R5427:Adcy7	UTSW	8	89,052,829 (GRCm39)	critical splice donor site	probably null
R5457:Adcy7	UTSW	8	89,037,649 (GRCm39)	missense	probably damaging	1.00
R5689:Adcy7	UTSW	8	89,051,412 (GRCm39)	missense	probably benign	0.00
R5907:Adcy7	UTSW	8	89,038,856 (GRCm39)	missense	possibly damaging	0.76
R5909:Adcy7	UTSW	8	89,052,124 (GRCm39)	missense	probably damaging	1.00
R5997:Adcy7	UTSW	8	89,053,020 (GRCm39)	missense	probably benign	0.41
R6038:Adcy7	UTSW	8	89,049,608 (GRCm39)	missense	probably benign	0.01
R6038:Adcy7	UTSW	8	89,049,608 (GRCm39)	missense	probably benign	0.01
R6133:Adcy7	UTSW	8	89,052,067 (GRCm39)	missense	possibly damaging	0.84
R6190:Adcy7	UTSW	8	89,052,358 (GRCm39)	splice site	probably null
R6213:Adcy7	UTSW	8	89,040,765 (GRCm39)	missense	probably damaging	1.00
R6287:Adcy7	UTSW	8	89,037,736 (GRCm39)	missense	possibly damaging	0.80
R6502:Adcy7	UTSW	8	89,052,107 (GRCm39)	missense	probably damaging	1.00
R6989:Adcy7	UTSW	8	89,035,414 (GRCm39)	missense	probably benign
R7042:Adcy7	UTSW	8	89,042,378 (GRCm39)	missense	probably damaging	0.99
R7829:Adcy7	UTSW	8	89,042,387 (GRCm39)	missense	probably damaging	1.00
R8067:Adcy7	UTSW	8	89,037,697 (GRCm39)	missense	probably damaging	1.00
R8113:Adcy7	UTSW	8	89,048,431 (GRCm39)	missense	probably damaging	1.00
R8118:Adcy7	UTSW	8	89,042,384 (GRCm39)	missense	probably damaging	1.00
R8190:Adcy7	UTSW	8	89,037,666 (GRCm39)	missense	possibly damaging	0.49
R8421:Adcy7	UTSW	8	89,048,812 (GRCm39)	missense	probably benign	0.06
R8549:Adcy7	UTSW	8	89,052,818 (GRCm39)	missense	probably benign
R8827:Adcy7	UTSW	8	89,036,327 (GRCm39)	missense	possibly damaging	0.73
R9076:Adcy7	UTSW	8	89,054,336 (GRCm39)	missense	probably damaging	1.00
R9228:Adcy7	UTSW	8	89,044,675 (GRCm39)	critical splice donor site	probably null
R9276:Adcy7	UTSW	8	89,052,014 (GRCm39)	missense	probably damaging	1.00
R9465:Adcy7	UTSW	8	89,046,778 (GRCm39)	missense	probably benign	0.42
R9515:Adcy7	UTSW	8	89,037,646 (GRCm39)	missense	possibly damaging	0.90
R9536:Adcy7	UTSW	8	89,053,026 (GRCm39)	missense	possibly damaging	0.78
R9564:Adcy7	UTSW	8	89,053,053 (GRCm39)	frame shift	probably null
R9565:Adcy7	UTSW	8	89,053,053 (GRCm39)	frame shift	probably null
R9659:Adcy7	UTSW	8	89,045,733 (GRCm39)	missense	probably benign	0.00
R9735:Adcy7	UTSW	8	89,037,262 (GRCm39)	missense	probably benign	0.16
R9788:Adcy7	UTSW	8	89,045,733 (GRCm39)	missense	probably benign	0.00
X0067:Adcy7	UTSW	8	89,051,228 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGGGTAGACTTCCTGGAG -3'
(R):5'- ATTCCAGCGCCATAGTCTGC -3'

Sequencing Primer
(F):5'- TAGACTTCCTGGAGGAGGGG -3'
(R):5'- GCATTGGCCCACTTCCATGAG -3'

Posted On

2020-10-20